Canonical Allele Identifier: CA391382044

Gene: HERC2

Linked Data

• gnomAD v4: 15-28141838-C-G
• MyVariant Identifiers: chr15:g.28386984C>G (hg19) ; chr15:g.28141838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141838C>G , CM000677.2:g.28141838C>G	GRCh38
NC_000015.9:g.28386984C>G , CM000677.1:g.28386984C>G	GRCh37
NC_000015.8:g.26060579C>G	NCBI36
NG_016355.1:g.185312G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11709G>C MANE Select	ENSP00000261609.8:p.Lys3903Asn
ENST00000650509.1:c.3420G>C	ENSP00000496936.1:p.Lys1140Asn
ENST00000261609.11:c.11709G>C	ENSP00000261609.7:p.Lys3903Asn
ENST00000564519.1:n.224G>C
NM_004667.5:c.11709G>C	NP_004658.3:p.Lys3903Asn
XM_005268276.3:c.11595G>C	XP_005268333.1:p.Lys3865Asn
XM_005268277.3:c.11595G>C	XP_005268334.1:p.Lys3865Asn
XM_006720726.2:c.11694G>C	XP_006720789.1:p.Lys3898Asn
XM_006720727.2:c.11451G>C	XP_006720790.1:p.Lys3817Asn
XM_011522131.1:c.11226G>C	XP_011520433.1:p.Lys3742Asn
XM_011522132.1:c.9225G>C	XP_011520434.1:p.Lys3075Asn
XM_011522133.1:c.8454G>C	XP_011520435.1:p.Lys2818Asn
XM_011522134.1:c.5826G>C	XP_011520436.1:p.Lys1942Asn
XM_005268276.5:c.11595G>C	XP_005268333.1:p.Lys3865Asn
XM_006720726.3:c.11694G>C	XP_006720789.1:p.Lys3898Asn
XM_006720727.3:c.11451G>C	XP_006720790.1:p.Lys3817Asn
XM_017022695.1:c.11595G>C	XP_016878184.1:p.Lys3865Asn
XM_017022696.1:c.11595G>C	XP_016878185.1:p.Lys3865Asn
XM_017022697.1:c.4875G>C	XP_016878186.1:p.Lys1625Asn
XM_017022698.1:c.4875G>C	XP_016878187.1:p.Lys1625Asn
NM_004667.6:c.11709G>C MANE Select	NP_004658.3:p.Lys3903Asn